A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14417968



Internal ID22154435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55329134..55329134hg38UCSC Ensembl
chr14:55795852..55795852hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522069
Supporting Variants
SamplesHG00514
Known GenesFBXO34
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14417968
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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